Canonical Allele Identifier: PA2825831888
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2820519
ClinVar RCV Id: RCV003709233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Trp278Arg
CA380846199
NM_001139443.2:c.832T>A
CA380846200
NM_001139443.2:c.832T>C